Mosaicism and incomplete penetrance of PCDH19 mutations.

Aijie LiuXiaoxu YangXiaoling YangQixi WuJing ZhangDan SunZhixian YangYuwu JiangXiru WuLiping WeiYuehua Zhang

Published in: Journal of medical genetics (2018)

Our study provides new insights into phenotype-genotype correlations in PCDH19 related epilepsy and the finding of high-frequency mosaicism has important implications for genetic counselling.

Keyphrases

high frequency
transcranial magnetic stimulation
genome wide
copy number
smoking cessation
drug induced